ORPHA:85293
X-linked intellectual disability, Cabezas type
Also known as: Cabezas syndrome
Publications
1,913
Trials
0
Interventional, condition-specific
Researchers
366
Distinct authors in sample
Gene link
CUL4B
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
An X-linked syndromic characterized by , (ID) with severe speech impairment, and short stature. Variable additional clinical features have been associated, including behavioral disturbances, gait abnormalities, tremor, , hypogonadism, truncal obesity, unspecific facial dysmorphism, and small hands and feet.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010306
- OMIM:300354
- UMLS:C1845861
Additional Mondo synonyms (11)
Cabezas syndrome; syndromic X-linked intellectual disability 15 · MRSS · MRXS15 · MRXSC · X-linked intellectual disability with short stature · X-linked intellectual disability with short stature, hypogonadism, and abnormal gait · intellectual disability, X-linked, syndromic 15 (Cabezas type) · intellectual disability, X-linked, with short stature · mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive · mental retardation, X-linked, with short stature · syndromic X-linked intellectual disability Cabezas type
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — CUL4B
- LiteraturePresent
1,913 matched papers (1,405 in last 10 years) Source
- Phenotype characterisedPresent
97 HPO annotations (e.g. Gait ataxia; Hypotonia; Relative macrocephaly) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (CUL4B).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
97
Associated phenotypes · MONDO:0010306
- Gait ataxia
- Hypotonia
- Relative macrocephaly
- Generalized hypotonia
- Pes planus
Showing 5 of 97 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
1,913
1,913 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,913 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
1,405 in the last 10 years · low confidence
Phrase hits: 33 · MeSH hits: 0
Who's working on it?
366
Distinct author names in 33 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Wieczorek D3 papers · 2022
Institut für Humangenetik, Universitätsklinikum Düsseldorf, Heinrich-Heine-Universität Düsseldorf, Düsseldorf 40225, Germany.
Papers in Europe PMC - 02Hsieh TC2 papers · 2024
Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.
Papers in Europe PMC - 03Koch-Hogrebe M2 papers · 2022
Vestische Kinder- und Jugendklinik Datteln, Universität Witten-Herdecke, Datteln 45711, Germany.
Papers in Europe PMC - 04Kuechler A2 papers · 2022
Institut für Humangenetik, Universitätsmedizin Essen, Universität Duisburg-Essen, Essen, Germany.
Papers in Europe PMC - 05López-González V2 papers · 2022
Sección Genética Médica, Servicio de Pediatría, Hospital Clínico Universitario Virgen de la Arrixaca, Murcia, Spain.
Papers in Europe PMC - 06Yi S2 papers · 2025
Guangxi Clinical Research Center for Birth Defects, Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, China.
Papers in Europe PMC - 07Abou Jamra R1 paper · 2021
Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany.
Papers in Europe PMC - 08Afenjar A1 paper · 2022
Département de génétique et embryologie médicale, Centre de Référence Malformations et maladies congénitales du cervelet et déficiences intellectuelles de causes rares, Hôpital Trousseau, APHP Sorbonne Université, Paris, France.
Papers in Europe PMC - 09Agrawal PB1 paper · 2024
Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston, MA, USA.
Papers in Europe PMC - 10Alders M1 paper · 2024
Amsterdam University Medical Center, University of Amsterdam, Department of Clinical Genetics, Amsterdam, The Netherlands.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
low confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for X-linked intellectual disability, Cabezas type — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("X-linked intellectual disability, Cabezas type" OR "Cabezas syndrome" OR "Cabezas syndrome; syndromic X-linked intellectual disability 15" OR "MRXS15" OR "MRXSC" OR "X-linked intellectual disability with short stature" OR "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait" OR "intellectual disability, X-linked, syndromic 15 (Cabezas type)" OR "intellectual disability, X-linked, with short stature" OR "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive" OR "mental retardation, X-linked, with short stature" OR "syndromic X-linked intellectual disability Cabezas type") OR ("CUL4B" OR "CUL4B syndrome" OR "CUL4B-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"X-linked intellectual disability, Cabezas type" OR "Cabezas syndrome" OR "Cabezas syndrome; syndromic X-linked intellectual disability 15" OR "MRXS15" OR "MRXSC" OR "X-linked intellectual disability with short stature" OR "X-linked intellectual disability with short stature, hypogonadism, and abnormal gait" OR "intellectual disability, X-linked, syndromic 15 (Cabezas type)" OR "intellectual disability, X-linked, with short stature" OR "mental retardation, X-linked, syndromic 15 (Cabezas type), X-linked recessive" OR "mental retardation, X-linked, with short stature" OR "syndromic X-linked intellectual disability Cabezas type"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: MRSS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
- Publication count (1913) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T02:53:48.270Z